Research to Reality in Rare Syndromes

Episode 1: When Sleep Doesn’t Come Easily: Supporting your Child’s Sleep

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Welcome to the first episode of Research to Reality in Rare Syndromes, a podcast for families caring for children with rare genetic syndromes and neurodivergent children.

In this episode, Dr Marie Dunnion is joined by Professor Caroline Richards and Dr Rory O’Sullivan from the University of Birmingham to talk about their sleep research and share practical insights to help support your child’s sleep. Caroline has published extensively on sleep in children with rare syndromes such as Angelman syndrome, Smith-Magenis syndrome, and tuberous sclerosis complex, while Rory’s PhD explored how sleep affects children’s cognition and daytime behaviours.

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SPEAKER_02

You're listening to the Cerebro Network's Research to Reality in Rare Syndromes podcast. Welcome to the very first episode of the Cerebra Network Podcast, Research to Reality in Rare Syndromes. I'm Dr. Marie Dunyan, your host and a parent carer, as well as a research fellow with the Cerebra Network. We've created this podcast to share our research in a way that's easy to understand for families and to offer valuable insights that can help improve the health, development and well-being of children with rare genetic syndromes and neurodivergent children. By way of a brief introduction, the Cerebretwork is a UK-based academic team that spans the University of Birmingham, Aston University, the University of Surrey, and the University of Warwick. And our research specialises in four key areas of autism, mental health, sleep, and behaviours at challenge. Today we're going to start by diving into sleep with Professor Caroline Richards and Dr. Rory O'Sullivan from the University of Birmingham, whose work explores how sleep affects children's development and daily life and what this means for families. So, Caroline, let's start with you. Can you please share what your sleep research focuses on?

SPEAKER_00

Thanks, Marie. Yeah, so we know that sleep is foundational for everything that we do during the day for all of us. So it underpins our well-being, our mental health, our ability to concentrate and attend to things, our ability to regulate our own behaviour, but also really basic physiological aspects of the day, so how hungry or full you might feel. Now, all of these things are really important to good outcomes during the day, but they're even more important for children who have neurodevelopmental conditions. So our sleep research at the University of Birmingham has focused on children who have rare or multiple or complex conditions. And we're thinking particularly about children with rare genetic syndromes, children with co-occurring diagnoses, so they might have an autism diagnosis and an intellectual disability diagnosis. And the reason we've focused on these groups is because we know from the literature that these children and adults are the most likely to have poor sleep. And that's really important because they may also be the children for whom some of those daytime functions, so well-being, behaviour, attention, may also still be really challenging. And so we've got a group of young people for whom those daytime things are difficult, but who have some of the poorest sleep. Now, the big challenge is that that particular group of children and young people with co-occurring diagnoses or multiple and rare conditions, they're very often excluded from the best quality sleep research. And that can be because particular research explicitly excludes people who have multiple diagnoses. But more often it's because the type of sleep research, so the assessments we use, they're just really hard to tolerate. So they involve maybe people having to go to a hospital or wear particular types of equipment that have lots of probes. And so for these children who might have sensory differences, who would maybe struggle from being away from parents, being in a new environment, we've not been able to gather the best quality information about their sleep in a research context. And so I guess the problem that our research team are trying to overcome is that this group of children have the poorest sleep, but we know the least about it, and therefore we are least able to intervene. So our research at Birmingham has three goals. The first is to develop better assessment methods. So thinking about ways we can harness technology, statistics, different types of tools and assessments so that we get really high-quality sleep data on this group of children so that they're not excluded from research anymore. But we do that in a way that's really accessible, um, so that the different sensory needs, communication needs, learning needs of this group are taken into account. So when we've done that better description of sleep, our second question is about can we model causes? So can we identify what some of the potential causes of sleep problems are in this group, but also some of the impacts of poor sleep? And when we've kind of done that modelling piece, when we've gathered those sort of valid clinical models, what we can then do is harness more precise and more effective interventions because we now have described the sleep better and we understand the pathways from the sleep problems to daytime functioning. We know what to do then, what to target in our interventions. So that's the third area we're interested in: intervening more timely, precise, effective, um, effectively with uh supports and interventions.

SPEAKER_02

Thank you, Caroline. That's um been a really comprehensive um overview of your research. So at this stage, Rory, we'll come to you, A, so you don't feel ignored in the conversation, but B, because I know a lot of what Caroline spoke about taps into your PhD research. So I thought perhaps you could um illuminate um some of those areas a little bit further to help us understand how perhaps sleep can be improved in children with rare genetic conditions or what we can understand from your research.

SPEAKER_01

Thank you, Marie. Yeah, I'll um do my best to kind of condense it all down into a short form. So um some of my kind of initial kind of research looked specifically at sleep measures, as Caroline kind of mentioned. We're interested in improving the assessment of sleep in children with rare genetic syndromes. Um and so as part of that, we kind of we want to look at the data that we get from different sleep measures and how comparable different sleep measures are, and and by doing that we can better understand how kind of accurate and reliable the data is that we get. So um one of my studies kind of looked at um these two different types of sleep measures. So we have what we call objective sleep measures, so these are very like mechanical measures of sleep. So things like um polysomography, which involves sticking a load of electrodes to a person and then putting them in a sleep lab and measuring their sleep overnight. We also have what we call ectigraphy, which is essentially like a fit bit, uh, so that's worn on the wrist or even on the ankle, and that device can measure sleep. And then this other kind of camp of sleep measures we have are called subjective measures. So these are typically competed by uh parents and caregivers. So these are things like sleep diaries and questionnaires. So yeah, we pulled a lot of data from these kind of two different types of measures and compared them, and we found that um they were quite comparable when it came to estimates of bedtime and wake-up time, but they were quite different when it came to estimates of sleep duration and night awakenings. So um essentially the results of that suggest that we need to be careful about what sleep measures we use when investigating specific aspects of sleep in children with rare genetic syndromes. So that'll be helpful for kind of future research, but also clinical practice as well. It might kind of help inform the sleep assessment strategies. I also did quite a bit of work looking at how sleep interacts with different kind of outcomes during the day as well. Um so in one study we looked at how sleep relates to kind of multiple daytime outcomes, so things like um uh painful health conditions, uh epilepsy, mental health outcomes, behaviors at challenge, you know, a lot of the things that we've talked about today. And we found that sleep was indeed in associated with kind of most of these outcomes, even after looking at other predictors of these things. So that really kind of suggests to us that sleep is an important part of children's broader outcomes that needs to be kind of taken seriously in the future, uh, both in research and in clinical practice. Um, yeah, I might leave that there.

SPEAKER_02

Thanks, Rory. No, that that's great because I think it demonstrates that sleep can't just be dealt with in isolation. And a question which came to my mind as I was listening to you, and um I'm sure we'll have a lot of families listening who have lived experience of various sleep issues, is whether there's like a specific sleep issue that you've encountered a lot in your research, or what kind of sleep issues do you come across most um predominantly? If I come back to Caroline on that.

SPEAKER_00

So I think one of the things we've really focused on is something called behavioural insomnia. Um, so there is a uh an international classification of sleep disorders that that tells us um these are the different types of ways sleep can go wrong. Um, and one of the, yeah, the kind of behavioural insomnia, which is problems with getting to sleep, problems with staying asleep, and problems with waking early that usually lead people to feel tired during the day. That's been a really common uh sleep concern for the children that we work with with rare genetic syndromes. I have to say that's not the only sleep problem we come across. So um lots of children might have something called um sleep apnea, so problems with maintaining their breathing and airway overnight, and other sort of biologically defined um sleep problems. And some of these are very much related to their diagnosis. So we know that children with Down syndrome, for example, are more likely to have um a sleep apnea than children with other syndromes. But in our group, we've particularly focused on behavioural insomnia partly because um it's a big concern for parents, and we really wanted to do research that matters to the community, but also because the models of understanding insomnia really draw on psychology and we are a sort of psychological research group, and so we've tried to focus on areas of sleep that if we can better describe and understand them, we are in a good position to be able to develop better interventions as well.

SPEAKER_02

Thanks, Caroline. So you've obviously mentioned that some sleep issues can be connected to certain rare genetic conditions, but have you also found that families experience different sleep issues as their children age and develop, for instance, when they hit puberty?

SPEAKER_00

Yeah, so that's not something we've explicitly looked at in lots of our research. Although we have, um so, in work led by initially Dr. Jane Trickett and then followed up by Dr. J Georgie Agar, we have looked at tracking children's sleep over time to see if we can describe changes. So um, one of the things that's really important about sleep is it's fundamentally developmental. Sleep changes from infancy through childhood, through adulthood, into older adulthood in ways that are really well known and predicted in the general population. As with all of sleep, we know much less about how sleep develops in children and adults with rare genetic syndromes. And so using actigraphy, as as Rory's mentioned already, we have been tracking the development of sleep in children with rare syndromes over their childhood. Um and what that's shown us is that there's a lot of individual difference. So even in syndromes where sleep difficulties are endemic. So the example here would be something like Smith McGuinness syndrome, where um nearly all children and adults will have a problem with their sleep. There are some children who, as they age, their sleep does seem to get better. And there are some children who, as they age, their sleep is not improving or is in fact getting worse. One of the questions we still need to understand is um what differentiates those kids from each other? Um, are there factors that could help us in interventions?

SPEAKER_02

Okay, so sleep is developmental. Can it also be environmental? So is a child's sleep likely to change based on a change in circumstances or location, such as you hear a lot of family carers talk about um changes during the school holiday, or for instance, when they physically go away on holiday?

SPEAKER_01

I think the short answer to that question is yes. Um, there's not been a lot of research specifically in children with rare genetic syndromes when it comes to environmental determinants of sleep. But we know from you know children in the general population that school gives a lot of structure to the day. And as a result of that, there's a lot of structure around sleep scheduling. So children are more likely to go to bed at regular times and wake up at regular times, um, and that might get lost during holidays, and it might get lost if families go abroad, for example, and you're in a totally different environment. A lot of the kind of environmental strategies, some of those strategies around managing sleep at home are kind of difficult to implement when you're away from home. Um, so yeah, and there's there's been a little bit of uh research that I I've done looking at um how socioeconomic status is linked to sleep as well. Um so we see that so in households with kind of a lower level of income, sleep difficulties might be more prevalent, and there's kind of a range of reasons for that, which we can get into if you want to talk more about that. But yeah.

SPEAKER_00

Well, I was gonna pick up on that, Rory, if you don't mind, because I think one of the um important things you sort of alluding to are that there are factors um more broadly than the child or the family, for example, that that might be influencing sleep. So um, with regard to your findings on socioeconomic status, you know, we've thought a bit about, you know, could it be crowding, room sharing, things like noise and the environment that children are having to sleep in that might be leading to greater sleep difficulties. And I think for children with rare genetic syndromes, um, those sensory aspects of an environment might be particularly important. And so you can imagine, you know, either being at home or going on holiday, if if the sensory aspects of an environment change, if it's noisier or hotter, or um the lights are different, or there's sort of background gurgling from pipes, or the the um bedlinen feels crunchy, all of those things could be really important and could affect children's sleep in really meaningful ways. Um so I think environment um has a huge part to play, and it we've co-produced with Cerebra a sleep guide, and in that we talk a little bit about environmental influences and the sensory environment. One of the best pieces of advice I've heard from a sleep practitioner is that as a parent, you can um maybe go into your child's room, lie in their bed at in an evening time or at night time, and just spend a few minutes there thinking about what you can hear, what does it feel like, what's the temperature like, um, because actually all of those things can have a big impact on how well kids can find it to get to sleep and stay asleep.

SPEAKER_02

Thanks, Caroline. I think that absolutely makes sense and to try and think of it from your child's lived experience perspective. So um, I think there's some really good tips there. And I think based on what we've discussed so far, what's strongly coming out is that sleep problems appear to be more common in children with rare genetic syndromes, which might to us seem obvious, but we might have some listeners who um aren't so familiar with why exactly this would be. So, Caroline, can you tell us a little bit as to what contributes to this?

SPEAKER_00

Yeah. Um, briefly, um it's it's going to be multifactorial. So there's going to be lots of different pathways that mean that a given child with a rare syndrome might be more likely to have a sleep problem. So there might be some biological pathways that might be to do with the specific genetic changes for that child. Um, so there are some syndromes where um that we we work with and we partner with where we know that the genetic changes um affect the clock genes, they affect the ways in which the body is physically regulating sleep, they affect things like the production and synthesis of melatonin. There might be other biological pathways. So, for example, in some syndromes, um, children might be more likely to have particular health problems. We we know that if you are in pain or if you've got a health condition, it's much harder to get to sleep, it's much harder to stay asleep. And these might also be the same children for whom it's hard for them to tell somebody that they're in pain or that they're uncomfortable. Um, there can also be sensory pathways, which I've just kind of spoken briefly about, but sensory differences may affect your ability to get a good night's sleep. Um, sleep is also something that we learn. So we use the environment around us. Um, the technical term is zeitgeibers, things that give us an indication of what time of the day it is and when sleep should start. So for lots of um very young infants, we'll use things like feeding, rocking, singing, um, to sort of cue in it's time to go to sleep. And infants will learn that, and young children will learn that. But for many of the children we work with who have a learning disability associated with their rare genetic syndrome, learning those cues, learning those zeitgebers can be really much more challenging. So there might be a process of learning that means that you're more likely to have a sleep problem. Um, there are also psychological factors, so um learning to sort of self-settle and self-soothe, the ways in which waking behaviours might be responded to overnight. Um, those would be some of the factors that might make sleep problems more likely. And I guess um one of the takeaways is to try and work out for a given syndrome or for the for a given child, what are the contributory pathways that have led to a sleep problem because that can then help us to intervene more effectively.

SPEAKER_02

So basically, the nature, would you say that the nature of a child's sleep issue varies depending on the rare genetic syndrome that the child has? I think you already addressed that a little bit with talking about Down syndrome earlier.

SPEAKER_00

Yeah, almost certainly. So there are definitely some unique aspects of sleep that are associated with particular syndromes. Um, in some really seminal work, um, one of our previous PhD students, um Dr. Georgie Agar, conducted a very large meta-analysis, which is um a way of pooling together data across the whole of the published literature. And what she was able to show is that um in different syndromes, there was differing likelihoods of particular sleep problems. So um cause matters, etiology matters, the nature of your rare genetic syndrome does matter. However, across all of the syndromes, sleep problems in general were more likely than in the general population. So just by having a genetic syndrome, it means it's probably more likely that you will experience a sleep problem, and then something about the the genetic syndrome you have might give us information about what types of sleep problem are more likely.

SPEAKER_02

So, across the board of rare genetic conditions, what does the data tell us in terms of understanding and improving sleep for families on a day-to-day basis? I know we've already discussed a lot of tips. So, for instance, I'll give some a specific example. What can parents do, for instance, when a child calls out in the night? Is there some kind of solution to that?

SPEAKER_00

So the work we've done so far has actually demonstrated that often parents with rare genetic syndromes are already doing what is considered best practice. So the psychological model of behavioural insomnia suggests that children's sleep problems get maintained by parents maybe going in at night time, inadvertently rewarding or reinforcing their pet their child's sort of waking behaviours, and also maybe staying with them at the start of the night and preventing them from learning how to self-soothe and self-settle. Actually, in our work so far, and informally, when we've worked with um parents of children with rare genetic syndromes at support days and at conferences, what we find is that parents are doing the right things. So they're giving where possible as limited kind of play and positive attention overnight. They're setting up those good sleep expectations, they've got calming sleep routines, um, they are being consistent with bedtime and get up time. Those are those are the things we might broadly term sleep hygiene. And again, if you go and look in our Cerebro Sleep Guide, we'll kind of lay out a lot of those there for you. Um, but the the the literature so far and the work we've done so far suggests that actually, compared to parents of typically developing children, parents of kids with rare syndromes are often already getting this right. So they're already doing the best possible thing, which is to not give lots of additional attention when a child wakes up overnight. That's excellent news.

SPEAKER_02

It's great to hear that there's so many families out there navigating sleep successfully. But for instance, there might be some families listening today who are preparing to work on their child's sleep routine. So is there a risk, and sorry if this sounds negative, that things could get worse before they get better? Is that something families have to prepare themselves for?

SPEAKER_01

Possibly, yes. It really comes down to the cause of a child's poor sleep and the type of intervention that the uh family are trying to implement. Um, so for let's say more biological causes, um, where the you know intervention might be a kind of a medication or some sort of maybe like a surgery, we wouldn't necessarily expect things to get worse before they get better. But in um in the cases where there's more kind of psychological determinants of poor sleep, so um let's say what Caroline was talking about earlier with behavioral insomnia, where a child might wake up in the night and a parent might attend to that, um, the intervention would be for a parent to kind of stop attending to that, right? So in those instances, things may get worse in that you know, behaviors that challenge or kind of hyperactivity, something like that, um, might get more extreme in response to a parent not attending to the child. Um, but that would be relatively short-lived, and then things would then improve thereon after.

SPEAKER_00

And I think for those kinds of interventions, um you would always want to be working with a clinician, and you'd always want a really thorough risk assessment because we know that if things get better before they get sorry, get worse before they get better, we want to make sure that that worse is safe, is manageable for the child and for the whole family. And working with a clinician will make sure that that kind of risk assessment, that safeguarding component is done. But lots of psychological interventions are about consistency and the long haul with sleep, and so sometimes I think we do have to acknowledge it might get a little bit worse, but the the kind of end goal is trying to improve it for the child, but also for the whole family.

SPEAKER_02

Definitely. And when seeking to improve sleep, do families perhaps discover that they don't always need a new solution? For instance, in reviewing their child's sleep, could they perhaps um realise that they've stopped doing something that may have actually worked for them in the past?

SPEAKER_00

Yeah, absolutely. And um, I think this is probably more anecdotal than anything. But um, you know, as a parent, when you're sleep deprived, you are just desperately trying to do whatever you can to try and improve the chances that you'll get some sleep. And so your own memory and attention is often impaired by the fact that you've had such broken sleep. So sometimes just working with a clinician to remember, you know, what worked, what worked well for my child in the past, sometimes it is about bringing back strategies that have been helpful in the past. Sometimes it's not about something really new or innovative. So, you know, we've already mentioned pain a few times. Pain and health conditions are some of the biggest causes of sleep problems for children with rare genetic syndromes. If your child's got an ear infection, you don't need an innovative intervention. You need to make sure you've found out that they've got an ear infection and get them antibiotics. And so, like the interventions often already exist, but it is about identifying a change in your child and making sure that their health professionals can pick that up and treat it.

SPEAKER_02

So, Caroline, I think effectively your message is that families aren't alone. There is a lot of help out there. Um, there are clinicians who specialise in this. We've already mentioned the Cerebro Sleep Guide. They've also got a sleep tips booklet and Cerebra also operate a sleep advice service. So, to summarize, based on our discussion today, what three sleep recommendations would you give to families trying to improve their child's sleep?

SPEAKER_00

My first recommendation is nearly always the same, and it's um we need to be really sure that your child isn't in pain or discomfort. Um, when children are in pain, we often see changes in their sleep, changes in their behaviour, changes in their mood. And so, if your child's sleep has worsened, the first thing to do is to rule out whether or not they might be in pain. Um there are lots of different ways to do this, obviously, um working with your local clinicians, GPs, health practitioners, but there are also resources available online for you as a family. Um, have a look at the Cerebra Pain guide. Um, there is also a free infographic on Cerebra's website called the FLAC, and that is a really simple rating scale that can help you to identify if your child might be in pain. So, number one, are they in pain? Number two, are you consistently um helping them to settle well at the start of the night and um not overly responding to waking behaviours during the night? So is that kind of reinforcement schedule sorted? Have you made sure that there's good sleep hygiene? Number two. Number three, I think I would just say be really kind to yourself as parents, as family carers. Um sleep is hard, and when you're not getting good sleep, it's hard for the whole family. Um, our research suggests that parents are always doing the best they possibly can. So be kind to yourself, find support, find support for your own well-being and mental health, and remember sleep is developmental, so there will be changes.

SPEAKER_02

Thanks, Caroline, and thanks, Rory. Thank you both for coming along today to discuss sleep in depth. And um, we've got a lot of great resources which we can obviously share with our listeners alongside this podcast. And in our next episode, we'll be talking to a parent carer, so we'll be getting that valuable for family carer perspective on sleep as well. So um, all that remains is to say goodbye and thank you again. Thanks.

SPEAKER_01

Thanks, Marie.